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Article

Functional analysis of XRCC4 mutations in reported microcephaly and growth defect patients in terms of radiosensitivity.

Journal of radiation research - 12 May 2021

Asa Anie Day D C, Wanotayan Rujira, Sharma Mukesh Kumar, Tsukada Kaima, Shimada Mikio, Matsumoto Yoshihisa

Abstract excerpt

Non-homologous end joining is one of the main pathways for DNA double-strand break (DSB) repair and is also implicated in V(D)J recombination in immune system. Therefore, mutations in non-homologous end-joining (NHEJ) proteins were found to be associated with immunodeficiency in human as well as in model animals. Several human patients with mutations in XRCC4 were reported to exhibit microcephaly and growth...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33842963
DOI: 10.1093/jrr/rrab016
PMCID: PMC8127669

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Functional analysis of XRCC4 mutations in reported microcephaly and growth defect patients in terms of radiosensitivity.PMID 33842963Read ↗

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